Associated Papers
Heme Biosynthetic Gene Expression Analysis With dPCR in Erythropoietic Protoporphyria Patients.
Granata F et al.
Frontiers in Physiology, 2022
Evidence in the UK Biobank for the underdiagnosis of erythropoietic protoporphyria.
Dickey AK et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Clinical and molecular epidemiology of erythropoietic protoporphyria in Italy.
Ventura P et al.
European Journal of Dermatology : Ejd, 2020
RAPIDOMICS: rapid genome-wide sequencing in a neonatal intensive care unit-successes and challenges.
Elliott AM et al.
European Journal of Pediatrics, 2019
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
Exome sequencing identifies potential risk variants for Mendelian disorders at high prevalence in Qatar.
Rodriguez-Flores JL et al.
Human Mutation, 2014
[Inheritance in erythropoietic protoporphyria].
Schmitt C et al.
Pathologie-biologie, 2010
Contribution of a common single-nucleotide polymorphism to the genetic predisposition for erythropoietic protoporphyria.
Gouya L et al.
American Journal of Human Genetics, 2006
Production and characterization of erythropoietic protoporphyric heterodimeric ferrochelatases.
Najahi-Missaoui W et al.
Blood, 2005
Ferrochelatase consisting of wild-type and mutated subunits from patients with a dominant-inherited disease, erythropoietic protoporphyria, is an active but unstable dimer.
Ohgari Y et al.
Human Molecular Genetics, 2005
Systematic analysis of molecular defects in the ferrochelatase gene from patients with erythropoietic protoporphyria.
Rüfenacht UB et al.
American Journal of Human Genetics, 1998
Examination of ferrochelatase mutations that cause erythropoietic protoporphyria.
Sellers VM et al.
Blood, 1998
Autosomal recessive erythropoietic protoporphyria: a syndrome of severe photosensitivity and liver failure.
Sarkany RP et al.
Qjm : Monthly Journal of the Association of Physicians, 1995
Deletion of the ferrochelatase gene in a patient with protoporphyria.
Magness ST et al.
Human Molecular Genetics, 1994
Mammalian ferrochelatase. Expression and characterization of normal and two human protoporphyric ferrochelatases.
Dailey HA et al.
The Journal of Biological Chemistry, 1994
Human erythropoietic protoporphyria: identification of a mutation at the splice donor site of intron 7 causing exon 7 skipping of the ferrochelatase gene.
Nakahashi Y et al.
Human Molecular Genetics, 1993
A molecular defect in human protoporphyria.
Brenner DA et al.
American Journal of Human Genetics, 1992